rs121912663
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
(A;T) | 7 | Li-Fraumeni Syndrome (predicted) |
Make rs121912663(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 17 |
Position | 7673745 |
Gene | TP53 |
is a | snp |
is | mentioned by |
dbSNP | rs121912663 |
dbSNP (classic) | rs121912663 |
ClinGen | rs121912663 |
ebi | rs121912663 |
HLI | rs121912663 |
Exac | rs121912663 |
Gnomad | rs121912663 |
Varsome | rs121912663 |
LitVar | rs121912663 |
Map | rs121912663 |
PheGenI | rs121912663 |
Biobank | rs121912663 |
1000 genomes | rs121912663 |
hgdp | rs121912663 |
ensembl | rs121912663 |
geneview | rs121912663 |
scholar | rs121912663 |
rs121912663 | |
pharmgkb | rs121912663 |
gwascentral | rs121912663 |
openSNP | rs121912663 |
23andMe | rs121912663 |
SNPshot | rs121912663 |
SNPdbe | rs121912663 |
MSV3d | rs121912663 |
GWAS Ctlg | rs121912663 |
Max Magnitude | 7 |
ClinVar | |
---|---|
Risk | rs121912663(G;G) rs121912663(T;T) |
Alt | rs121912663(G;G) rs121912663(T;T) |
Reference | Rs121912663(A;A) |
Significance | Pathogenic |
Disease | Li-Fraumeni syndrome 1 Li-Fraumeni syndrome |
Variation | info |
Gene | TP53 |
CLNDBN | Li-Fraumeni syndrome 1 Li-Fraumeni syndrome |
Reversed | 1 |
HGVS | NC_000017.10:g.7577063T>A; NC_000017.10:g.7577063T>C |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000013177.20, RCV000457955.1, |